# Peutz–Jeghers Syndrome in a Young Ethiopian Male: A Case Report

## TL;DR

A young Ethiopian man with Peutz–Jeghers Syndrome is reported, highlighting the importance of diagnosis and management in resource-limited settings.

## Contribution

This case report emphasizes the clinical recognition of PJS in the absence of genetic testing in low-resource areas.

## Key findings

- The patient presented with multiple hamartomatous polyps and mucocutaneous pigmentation consistent with PJS.
- A family history of GI symptoms and breast cancer supported the diagnosis despite lack of genetic testing.
- Therapeutic polypectomy and cancer surveillance were recommended to prevent complications.

## Abstract

Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal (GI) tract, pigmented mucocutaneous lesions, and an increased risk of cancer. We report a case of a 22-year-old male from Ethiopia who presented with recurrent abdominal pain and a history of surgery for bowel obstruction. Endoscopic evaluation revealed multiple polyps in the stomach, ileum, and colon, which were confirmed histopathologically as hamartomatous polyps. Mucocutaneous pigmentation and family history of GI symptoms and maternal breast cancer led to the diagnosis of PJS, despite the unavailability of genetic testing. The patient underwent therapeutic polypectomy and was advised on cancer surveillance. This case highlights the importance of recognizing and managing PJS in resource-limited settings, emphasizing the need for early diagnosis and vigilant surveillance to prevent complications, especially when genetic testing may not be readily available.